Pathology Flashcards
Which clotting factors does heparin affect?
Prevents activation factors 2,9,10,11
Which clotting factors does warfarin affect?
Affects synthesis of factors 2,7,9,10
Which clotting factors does DIC affect?
Factors 1,2,5,8,11
which clotting factors does liver disease affect?
Factors 1,2,5,7,9,10,11
Blood clotting results in haemophilia?
APTT: increase
PT: N
Bleeding time: N
Blood clotting results in VWD?
APTT: increase
PT: N
Bleeding time: increased
Blood clotting results in Vit K deficiency?
APTT: increase
PT: increase
Bleeding time: N
What is a Paul Bunnell test for?
EBV
What are spur cells on blood film seen in association with?
liver disease and / or renal failure.
Symptoms of hereditary spherocytosis?
hyperbilirubinaemia, jaundice and splenomegaly
Major constituent of cryoprecipitate?
factor VIII
(also fibrinogen,VWF,factor XIII)
Best test to determine acute haemolytic transfusion reaction?
A Coomb’s test should confirm haemolysis.
Other tests for haemolysis include: unconjugated bilirubin, haptoglobin, serum and urine free haemoglobin.
what is an acute transfusion reaction?
signs or symptoms during or within 24 hours of a blood transfusion
Signs indicating non-immune mediated blood transfusion reaction?
Hypocalcaemia
CCF
Infections
Hyperkalaemia
Pattern of inheritance and gene for Li Fraumeni syndrome?
Autosomal dominant
germline mutations to p53 tumour suppressor gene
High incidence of malignancies particularly sarcomas and leukaemias
When is Li Fraumeni syndrome diagnosed?
*Individual develops sarcoma under 45 years
*First degree relative diagnosed with any cancer below age 45 years and another family member develops malignancy under 45 years or sarcoma at any age
What chromosomes are BRCA1/2 carried on?
Carried on chromosome 17 (BRCA 1) and Chromosome 13 (BRCA 2)
How are the BRCA genes linked with breast cancer/ovarian ?
breast: 60% increased chance
ovarian:55% with BRCA 1 and 25% with BRCA 2).
Inheritance pattern and effects of lynch syndrome?
Autosomal dominant
Develop colonic cancer and endometrial cancer at young age
80% of affected individuals will get colonic and/ or endometrial cancer
can use Amsterdam criteria
What is the Amsterda criteria?
For Lynch syndrome:
-Three or more family members with a confirmed diagnosis of colorectal cancer, one of whom is a first degree (parent, child, sibling) relative of the other two.
-Two successive affected generations.
-One or more colon cancers diagnosed under age 50 years.
-Familial adenomatous polyposis (FAP) has been excluded.
What is Gardners syndrome?
Autosomal dominant familial colorectal polyposis
Multiple colonic polyps
Extra colonic diseases of Gardners syndrome?
skull osteoma, thyroid cancer and epidermoid cysts
Desmoid tumours seen in 15%
What is the mutation in Gardners syndrome?
Mutation of APC gene located on chromosome 5
Management of Gardners syndrome?
colectomy to reduce risk of colorectal cancer
Now considered a variant of familial adenomatous polyposis coli
Risk factors for bladder cancer?
smoking
schistosomiasis infection
Exposure to hydrocarbons such as 2-Naphthylamine
Types of bladder malignancy?
Transitional cell carcinoma (>90% of cases)
Squamous cell carcinoma ( 1-7% -except in regions affected by schistosomiasis)
Adenocarcinoma (2%)
How is gastric cancer staged?
CT scanning of the chest abdomen and pelvis is the routine first line staging investigation in most centres.
Laparoscopy to identify occult peritoneal disease
PET CT (particularly for junctional tumours)
Management of gastric cancer?
- Proximally sited disease greater than 5-10cm from the OG junction may be treated by sub total gastrectomy
- Total gastrectomy if tumour is <5cm from OG junction
- For type 2 junctional tumours (extending into oesophagus) oesophagogastrectomy is usual
-Lymphadenectomy should be performed. A D2 lymphadenectomy is widely advocated
-chemotherapy either pre or post operatively.
Which vasculitis may affect aorta and branches?
Takayasu’s arteritis
Buergers disease
Giant cell arteritis
Examples of vasculitis affecting large and medium vessels?
Buergers disease
Giant cell arteritis
Polyarteritis nodosa
Examples of vasculitis affecting medium sized muscular arteries?
Polyarteritis nodosa
Wegeners granulomatosis
Examples of vasculitis affecting small sized muscular arteries?
Wegeners granulomatosis
Rheumatoid vasculitis
What is heterotopia?
tissue type that is found in the abnormal location is present there from birth and does not migrate to that site e.g gastric mucosa in a meckels diverticulum
What are the three types of heterotopia in the brain?
subependymal heterotopia, focal cortical heterotopia and band heterotopia
What is desmoid tumour?
Desmoid tumors are noncancerous growths that occur in the connective tissue.
What is the main risk factor for abdominal desmoids?
APC variant of familial adenomatous polyposis coli. Most cases are sporadic.
What is aggressive fibromatosis?
Desmond tumours which behave in a locally aggressive manner
Treatment of aggressive fibromatosis?
surgical excision
How can causes dysphagia be categorised?
Extrinsic
Oesophageal wall
Intrinsic
Neurological
Extrinsic causes of dysphagia?
Mediastinal masses
Cervical spondylosis
Oesophageal wall causes of dysphagia?
Achalasia
Diffuse oesophageal spasm
Hypertensive lower oesophageal sphincter
Intrinsic causes of dysphagia?
Tumours
Strictures
Oesophageal web
Schatzki rings
Neurological causes of dysphagia?
CVA
Parkinson’s disease
Multiple Sclerosis
Brainstem pathology
Myasthenia Gravis
What is Peutz-Jeghers syndrome?
AD
numerous benign hamartomatous polyps in the gastrointestinal tract
Responsible gene for peutz-jeghers?
serine threonine kinase LKB1 or STK11
Features of peutz-jeghers?
- Hamartomatous polyps in GI tract (mainly small bowel)
- Pigmented lesions on lips, oral mucosa, face, palms and soles
- Intestinal obstruction e.g. intussusception (which may lead to diagnosis)
- Gastrointestinal bleeding
What is opsonisation?
micro-organism becomes coated with antibody, C3b and certain acute phase proteins to facilitate phagocytosis
Genetics of achondroplasia?
AD
causes defects in fibroblast growth factor receptor
can occur sporadically -RF advancing maternal age
Radiological features of achondroplasia?
Large skull with narrow foramen magnum
Short, flattened vertebral bodies
Narrow spinal canal
Horizontal acetabular roof
Broad, short metacarpals
What can cause raised PSA levels?
-benign prostatic hyperplasia (BPH)
-prostatitis and urinary tract infection (NICE recommend to postpone the PSA test for at least 1 month after treatment)
-ejaculation (ideally not in the previous 48 hours)
-vigorous exercise (ideally not in the previous 48 hours)
-urinary retention
-instrumentation of the urinary tract
How to remember upper PSA limit per age?
upper PSA limit: (age - 20) / 10
Post splenectomy blood film changes?
inability to readily remove immature or abnormal red blood cells from the circulation:
- RBC does not alter significantly
- Howell Jolly bodies
- Immediately:granulocytosis (mainly composed of neutrophils)
- After a few days: target cells, siderocytes and reticulocytes
- After a few weeks: agranulocytosis replaced by lymphocytosis and monocytosis
-persistent raised platelets
What is subclavian steal?
stenosis or occlusion of the subclavian artery, proximal to the origin of the vertebral artery ->retrograde flow (through vertebral/interal thoracic artery) and symptoms CNS vascular insufficiency
Investigations of subclavian steal?
A duplex scan and/ or angiogram will delineate the lesion and allow treatment to be planned
Treatment of aortic dissection?
medical (Type B disease) or surgical (Type A disease)
What is a cervical rib?
Supernumery fibrous band arising from seventh cervical vertebra
Incidence of 1 in 500
What does a cervical rib cause and how can it be managed ?
May cause thoracic outlet syndrome
Treatment involves surgical division of rib
What are psammoma bodies and what are they commonly seen in?
clusters of microcalcification commonly seen in papillary carcinomas
Subtypes of thyroid malignancy?
Papillary carcinoma
Follicular carcinoma
Anaplastic carcinoma
Medullary carcinoma
Lymphoma
Commonest subtype of thyroid malignancy?
Papillary carcinoma
Where do papillary carcinomas metastasise to?
via the lymphatics and thus laterally located apparently ectopic thyroid tissue is usually a metastasis from a well differentiated papillary carcinoma
How do follicular thyroid cancers metastasise?
Lymph node metastases are uncommon and these tumours tend to spread haematogenously. This translates into a higher mortality rate
What does medullary carcinoma involve?
tumours of the parafollicular cells ( C Cells) and are of neural crest origin.
May occur as part ofMEN2A
What may be raised with medullary carcinoma?
serum calcitonin
What oncology is associated with EBV?
Burkitt’s lymphoma
Hodgkin’s lymphoma
Post transplant lymphoma
Nasopharyngeal carcinoma
Oncologic associations of HPV16/18?
Cervical cancer
Anal cancer
Penile cancer
Vulval cancer
Oropharyneal cancer
Oncologic associations of hep B/C?
Hepatocellular carcinoma
Oncologic associations of Human T lymphotrophic virus 1?
Tropical spastic paraparesis
Adult T cell leukaemia
What is the trotters triad?
Diagnosis of nasopharyngeal carcinoma (EBV association):
Unilateral conductive hearing loss
Ipsilateral facial & ear pain
Ipsilateral paralysis of soft palate
Local and systemic feature of nasopharyngeal carcinoma?
Systemic:
Cervical lymphadenopathy
Local:
Otalgia
Unilateral serous otitis media
Nasal obstruction, discharge and/ or epistaxis
Cranial nerve palsies e.g. III-VI
What is Pseudomyxoma peritoneii?
-Rare mucinous tumour
-Most commonly arising from the appendix (other abdominal viscera are also recognised as primary sites)
-characterised by accumulation of large amounts of mucinous material in the abdominal cavity
Treatment of Pseudomyxoma Peritonei?
surgical and consists of cytoreductive surgery (and often peritonectomy c.f Sugarbaker procedure) combined with intra peritoneal chemotherapy with mitomycin C.
What does Trypanosoma Cruzi cause?
Chagas
Major infective sites of Trypanosoma Cruzi?
CNS, intestinal myenteric plexus, spleen, lymph nodes and cardiac muscle
Classification of oncogenes?
Growth factors e.g. Sis
Transcription factors e.g. Myc
Receptor tyrosine kinase e.g. RET
Cytoplasmic tyrosine kinase e.g. Src
Regulatory GTPases e.g. Ras
What are Hassall’s corpuscles?
concentric ring of epithelial cells seen in the medulla of the thymus
Where does the thymus develop from?
third and 4th pharyngeal pouches
Histology of malignancy?
Abnormal tissue architecture
Coarse chromatin
Invasion of basement membrane*
Abnormal mitoses
Angiogenesis
De-differentiation
Areas of necrosis
Nuclear pleomorphism
- Distringuishes invasive malignancy from in-situ disease
What is VHL?
autosomal dominant condition predisposing to neoplasia
Gene for VHL?
VHL gene located on short arm of chromosome 3